Canonical Allele Identifier: CA1087499093

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776219620
• gnomAD v3: 6-32040431-TAGACCACGAACTGGGCC-T
• gnomAD v4: 6-32040431-TAGACCACGAACTGGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040432_32040448del , CM000668.2:g.32040432_32040448del	GRCh38
NC_000006.11:g.32008209_32008225del , CM000668.1:g.32008209_32008225del	GRCh37
NC_000006.10:g.32116188_32116204del	NCBI36
NG_007941.2:g.7125_7141del
NG_008337.2:g.73927_73943del
NG_007941.3:g.7128_7144del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.966_982del MANE Select	ENSP00000496625.1:p.Asp323TrpfsTer?
ENST00000418967.6:c.966_982del	ENSP00000408860.2:p.Asp323TrpfsTer?
ENST00000435122.3:c.876_892del	ENSP00000415043.2:p.Asp293TrpfsTer?
ENST00000479074.5:n.1024_1040del
ENST00000479730.5:n.1082_1098del
ENST00000483041.5:n.1135_1151del
ENST00000486063.5:n.945_961del
NM_000500.7:c.966_982del	NP_000491.4:p.Asp323TrpfsTer?
NM_001128590.3:c.876_892del	NP_001122062.3:p.Asp293TrpfsTer?
XM_011514314.1:c.561_577del	XP_011512616.1:p.Asp188TrpfsTer?
NM_000500.9:c.966_982del MANE Select	NP_000491.4:p.Asp323TrpfsTer?
NM_001368143.1:c.561_577del	NP_001355072.1:p.Asp188TrpfsTer?
NM_001368144.1:c.561_577del	NP_001355073.1:p.Asp188TrpfsTer?
NM_001128590.4:c.876_892del	NP_001122062.3:p.Asp293TrpfsTer?
NM_001368143.2:c.561_577del	NP_001355072.1:p.Asp188TrpfsTer?
NM_001368144.2:c.561_577del	NP_001355073.1:p.Asp188TrpfsTer?